Baby …

I couldn’t sleep last night baby, so I went to be by your side.

I sat down next to you on the carpet, and just broke down and cried. 

Life just isn’t fair baby, this was never in our plans. 

Daddy and I want things to be easy for you, but this is all out of our hands. 

Regardless of any diagnosis baby, we are right here by your side. 

 

No matter what faces us, we will take everything in stride. 

Cause, baby you’re still perfect, theres no denying that. 

You’re a dream come true, and even with it all, I’d never take it back. 

Ashlyn, I hope you know how incredible you are.

You’re one of a kind and so special, and even better, you’re ours.

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As a lot of you know yesterday we had extensive testing done on Ashlyn. The tests and procedures that were performed yesterday were:

  • An ABR hearing exam
  • MRI of her Brain
  • CT scan of her skull
  • A scope of her airway system

So far we have gotten some information about a couple of things. We are waiting on results and information of her MRI, CT  and blood test.

Here is some details about what was going on and or what doctors are looking for:

  1. The ABR hearing exam was done to see how much hearing loss Ashlyn is experience. When someone has Goldenhar syndrome, one of the main”symptoms” or effects of it is ear damage or malformation. Which is directly related to how one hears. Luckily we learned yesterday that Ashlyn is NOT deaf in her right ear. She has something called Conductive hearing loss. Its a secondary form of hearing loss, not deafness. It can be caused by a number of things, but it is most likely being caused by Ashlyn’s hemifacial microsomia (meaning that one side of her skull is smaller than the other). We will be headed back to our ENT for her to look further and come up with a plan of  care for this.
  2. Our geneticist and nuerologist ordered the MRI of Ashlyns brain. They are looking in to see a couple things. Is there any sort of compression on Ashlyns brain (again do to the hemifacial microsomia)? Where her brain and skull connect to her spine is there any damage (Ashlyn spine has several area of fused nerves/bones, so they want to be sure that where her skull and spine connect, nothing is being compromised)? Does she have any form of cerebral palsy? Are there any other inconsistencies in her brain that need to be looked at further?
  3. Our craniofacial team ordered the CT of her skull. They are specifically looking to see how Ashlyn’s jaw connects to her skull. Both skeletal and muscle. *this is significant to the findings of her scope, see #4.
  4. This is the biggie. Back in February Ashlyn had a sleep study done. The reason for the sleep study is because of Ashlyns slow growth. Doctors believe she wasn’t achieving the level of deep sleep needed for her body to release the correct hormones to help her grow. They were right. Ashlyn was diagnosed the next day with Severe Airway Obstructive Sleep Apnea. During the scope the doctors goals were to find and assess where her airway obstruction was. This was the first procedure done yesterday, and after an hour of Ashlyn being back there, the doctors came back and pulled us in to a private room. They went on to explain that there was SEVERAL things going on that they are concerned about. Ashlyn has three different areas of severe obstruction. ****This is all very very new to us, and admittedly I am not a pro on anatomy. So Im going to dumb this down a bit. The first obstruction is at Ashlyns vocal cords (the very back part of your throat). Because of Ashlyns skull deformation, her jaw sits further back than a “normal” person. So with that, her tongue sits back further. Because of this, her tongue is blocking her vocal cords. Secondly, there is also some malformation in that area. On a typical person doctors would be able to see the cords, in full. Ashlyn’s are covered up and they can only see about 30% of them, and thats AFTER they pull her tongue forward, because it sits back so far. Lastly (so far, until we do further testing and looking at her trachea) Ashlyn has some stuff going on at the top of her trachea. Ill explain this in the way the doctors did to us. At the top of your trachea there are cartilage flaps that hold in air. So when you or I take a deep breath those flaps hold in air to our trachea., making us feel like we took a full, deep breathe. Well those flaps on Ashlyn aren’t working properly. They are “floppy” as the doctors describe it, so Ashlyn can’t *really* take a full deep breath…. Can you imagine??!?!??! Could you seriously imagine not being able to catch your breathe? This thought kills me. My child is struggling to breathe!!!!! Something a lot of people might take for granted. Here’s the big problems with all of this. When Ashlyn is in a fully rested state (sleeping), it would be very possible for her to not be able to breathe. For that reason we will be going back to our Pulmonary doctor and he will be prescribing and working with us on getting a cpap. This is a breathing device Ashlyn will wear at night when she’s asleep. Thats one of our first steps. The doctors that were working with us yesterday will be presenting her very rare and difficult case, to a panel of “air” doctors, as they referred to them. We will also begin attending whats called the “airway clinic” where we will see yet another ENT and our Pulmonary doctor. After the doctors review Ashlyns case we will begin talking about different treatments to handle the obstructions. She will eventually be having surgery to fix the problems at her vocal cords (pulling her epiglottis back). Then, once the doctors review the CT scan of her jaw, they will make the decision to or not to go through with whats called a “jaw distraction”. Meaning that they would go in and put screws in her jaw, that Jeremy and I would adjust throughout time to pull her jaw forward, in doing this it would be pulling her tongue forward,and away from blocking her airway. More testing and procedures are needed right now as they were unable to get a good look at her entire trachea. So there may be more things added to this list of possibilities.

Sooooooo, yeah. Thats where we are at. Please understand I am not a doctor and Jeremy andI were so incredibly overwhelmed we didn’t ask many questions. Over the next several weeks we will be having lots of follow ups, so I will continue to update as we can.

 

Through it all, Ashlyn has been a trooper. She may be small but she is FIERCE! Brielle has been amazing too. I think she is starting to sense things with Ashlyn are “different”,  she has been extra gentle and kind to her recently and I can only hope this continues.

 

 

 

 

 

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3 thoughts on “Baby …

  1. Hello! I recently came across your Instagram page while searching Goldenhar and saw your beautiful baby girls. My daughter is 5 months and was diagnosed with a mild case of Goldenhar shortly after birth. My husband and I can definitely relate to this post. Our daughter has been having all of these same tests the past few months. It is always nice to talk with someone who can relate or give advice.

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